Canonical Allele Identifier: CA136149
Gene: SOS1 HGNC NCBI
ClinGen Classification:
Classification Likely Benign
Condition RASopathy
VCEP RASopathy VCEP
ClinVar RCV:
RCV000038555
RCV000523675
RCV002221483
ClinVar Variation:
45367
dbSNP:
371408734
gnomAD v2:
2:39213258 G / T
gnomAD v3:
2:38986117 G / T
gnomAD v4:
chr2-38986117-G-T
Joint Max Group AF 0.00055396 (SAS)
Genomes Max Group AF 0.00000801 (AFR)
Exomes Max Group AF 0.00058569 (SAS)
MyVariant.info:
GRCh38 chr2:g.38986117G>T
GRCh37 chr2:g.39213258G>T
Revel Score:
ENST00000426016 0.428
ENST00000402219 (MANE Select) 0.428
ENST00000543698 0.428
ENST00000395038 0.428
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.38986117G>T , CM000664.2:g.38986117G>T GRCh38
NC_000002.11:g.39213258G>T , CM000664.1:g.39213258G>T GRCh37
NC_000002.10:g.39066762G>T NCBI36
NG_007530.1:g.139347C>A , LRG_754:g.139347C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000685279.1:c.2476C>A ENSP00000509424.1:p.Pro826Thr
ENST00000686849.1:n.500C>A
ENST00000690876.1:c.*1015C>A ENSP00000508955.1:n.*1015C>A
ENST00000692089.1:c.3399+1356C>A ENSP00000508626.1:n.3399+1356C>A
ENST00000692227.1:c.1162-754C>A ENSP00000509138.1:n.1162-754C>A
ENST00000402219.8:c.3709C>A MANE Select ENSP00000384675.2:p.Pro1237Thr
ENST00000395038.6:c.3664C>A ENSP00000378479.2:p.Pro1222Thr
ENST00000402219.6:c.3709C>A ENSP00000384675.2:p.Pro1237Thr
ENST00000426016.5:c.3709C>A ENSP00000387784.1:p.Pro1237Thr
ENST00000469581.1:n.452C>A
NM_005633.3:c.3709C>A , LRG_754t1:c.3709C>A NP_005624.2:p.Pro1237Thr
XM_005264515.3:c.3664C>A XP_005264572.1:p.Pro1222Thr
XM_011533060.1:c.3802C>A XP_011531362.1:p.Pro1268Thr
XM_011533061.1:c.3757C>A XP_011531363.1:p.Pro1253Thr
XM_011533062.1:c.3688C>A XP_011531364.1:p.Pro1230Thr
XM_011533063.1:c.3685C>A XP_011531365.1:p.Pro1229Thr
XM_011533064.1:c.3538C>A XP_011531366.1:p.Pro1180Thr
XM_011533065.1:c.3604-754C>A XP_011531367.1:n.3604-754C>A
XM_011533066.1:c.2644C>A XP_011531368.1:p.Pro882Thr
XM_005264515.4:c.3664C>A XP_005264572.1:p.Pro1222Thr
XM_011533062.2:c.3688C>A XP_011531364.1:p.Pro1230Thr
XM_011533064.2:c.3538C>A XP_011531366.1:p.Pro1180Thr
NM_001382394.1:c.3688C>A NP_001369323.1:p.Pro1230Thr
NM_001382395.1:c.3664C>A NP_001369324.1:p.Pro1222Thr
NM_005633.4:c.3709C>A MANE Select NP_005624.2:p.Pro1237Thr
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